Metabolic disorders

Metabolic disorders

Background

Metabolic disorders or inborn errors of metabolism (IEM) result from a block (partial or complete) to an essential pathway in the body's metabolism. There are a large number of conditions included in this group of disorders.

Management of metabolic disorders can be very complicated and should always involve close liaison with a metabolic physician.

Most of these disorders are inherited as autosomal recessive.

Many metabolic disorders present in the newborn period or shortly thereafter. Patients may present later, for example during intercurrent illnesses.

High index of suspicion required to make diagnosis as the clinical presentation of most metabolic disorders is non-specific.